1. Haemochromatosis
Autosomal recessive
Excessive iron accumulation
0.5% of the Caucasians
Woman usually present a decade later than men due to menstrual loss
Usually present in 40s/50s
Clinical Features:
Triad of:
Pigmentation – melanin deposition
DM – ‘bronze diabetes’
Hepatomegaly – if iron deposition is severe
Other symx include:
Gonadal atrophy & loss of libido 2° to pituitary dysfunction
Cardiac failure
Artheritis in small joints of hands
Chrondrocalcinosis in the knees
Diagnosis & Investigations:
Serum iron – usually elevated with a low total iron binding capacity
Transferrin saturation – grossly elevated (often 100%, normal is <50%)
Serum ferritin – usually grossly elevated. It can also be elevated in RA or
inflam diseases as its an acute phase protein; also in alcoholic liver disease,
Pathology
Normally, iron metabolism is regulated in the small intestine according to
requirements. In haemochromatosis, the mechanism is faulty, leading to
increased levels of iron absorption even when excess iron stores are
present.
Increased deposition in the liver parenchymal cells – causes extensive
pigmentation and fibrosis and eventually cirrhosis
Increased iron also develops in the endocrine glands, skin and heart.
2. DM or other metabolic diseases due to increased secretion. (can cause
confusion)
Liver biopsy – confirms iron deposition and assessment of damage.
Fasting glucose – exclude 2° DM
ECG – eliminate cardiomyopathy
Complications:
If untreated, cirrhosis causing liver failure and portal hpt.
Up to 1/3 of male ptx develop hepatocellular ca
Screening first degree relatives to avoid liver failure
Treatment:
Aims: to reduce iron stores (reflected by serum ferritin) and reduce further
complications
Venesection- a unit of blood (450ml) approx contains 250mg iron. This is
done weekly for 6-12 months. And then removing 2-3 units a yr after.
Chelating agents – e.g. desferrioxamine, if vensection is not tolerated